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Date/Time: Thu, Nov 07, 12:45pm - 1:15pm
Location: Theater 2, Exhibit & Poster Hall/Upper Level
Speaker: Brian Walker, Ph.D. - Professor of Medical & Molecular Genetics at Indiana University School of Medicine
Title: Highly Sensitive Structural Variant Discovery Using Short Read Sequencing
Talk Abstract: Complex structural variants, such as templated insertions, chromothripsis, and chromoplexy, are associated with disease progression in multiple myeloma but their interactions have not yet systematically been studied. We performed sequencing on 13 myeloma patient-derived xenograft samples using short-read and long-read sequencing, optical genome mapping, plus a rapid Hi-C assay (LinkPrep™, Cantata Bio). We identified multiple complex events, such as templated insertions and chromothripsis, and determined the gene interactions leading to super-enhancer juxtaposition resulting in gene dysregulation.
Speaker: Cory Padilla, Ph.D. – Product Manager
Talk Title: Improved Whole Genome Variant Discovery with the Dovetail® LinkPrep™ Assay
Description: Genetic variation plays a crucial role in disease development, especially in oncology, where mutations drive cancer development. Detecting the full range of genetic variation often requires multiple assay types to account for size variability and complexity. Here we introduce the Dovetail® LinkPrep™ assay, a next generation Hi-C assay, which provides simultaneous high sensitivity detection of SVs while retaining WGS capabilities for SNVs, INDELs, CNVs in a single NGS dataset. The LinkPrep Assay bridges the gap between large-scale SV detection and nucleotide-level variation identification.
Day/Time: Thursday, November 7th, 2:30 - 4:30 pm
Location: # 1185T
Learn about our new kit and service offerings: Dovetail® LinkPrep™ Kit and Services for Genetic Variant Detection - more details: HERE